Literature DB >> 13469174

Homozygous appearance of distal myopathy.

L WELANDER.   

Abstract

Entities:  

Keywords:  PROGRESSIVE MUSCULAR DYSTROPHY/heredity

Mesh：

Year:  1957        PMID： 13469174     DOI： 10.1159/000150998

Source DB:  PubMed          Journal:  Acta Genet Stat Med        ISSN： 0567-7440


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  9 in total

Review 1.  MUSCULAR DYSTROPHY: SOME RECENT ADVANCES IN KNOWLEDGE.

Authors:  J N WALTON
Journal:  Br Med J       Date:  1964-05-23

2.  Bibliography of human genetics.

Authors:  R H POST
Journal:  Am J Hum Genet       Date:  1958-12       Impact factor: 11.025

3.  Muscular Dystrophy and Related Disorders.

Authors:  V Dubowitz
Journal:  Postgrad Med J       Date:  1965-06       Impact factor: 2.401

4.  Camptobrachydactyly: a new autosomal dominant trait with two probable homozygotes.

Authors:  J A Edwards; R P Gale
Journal:  Am J Hum Genet       Date:  1972-07       Impact factor: 11.025

5.  Autosomal recessive distal muscular dystrophy.

Authors:  C Scoppetta; B Mercuri; R Di Lello; V S Tolli; G F Mennuni; M L Vaccario
Journal:  Ital J Neurol Sci       Date:  1997-10

6.  Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

Authors:  B Udd
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

7.  Homozygote for Huntington disease.

Authors:  R H Myers; J Leavitt; L A Farrer; J Jagadeesh; H McFarlane; C A Mastromauro; R J Mark; J F Gusella
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

8.  Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases.

Authors:  H Mizusawa; H Kurisaki; M Takatsu; K Inoue; T Mannen; Y Toyokura; T Nakanishi
Journal:  J Neurol       Date:  1987-04       Impact factor: 4.849

9.  TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Authors:  YouJin Lee; Per Harald Jonson; Jaakko Sarparanta; Johanna Palmio; Mohona Sarkar; Anna Vihola; Anni Evilä; Tiina Suominen; Sini Penttilä; Marco Savarese; Mridul Johari; Marie-Christine Minot; David Hilton-Jones; Paul Maddison; Patrick Chinnery; Jens Reimann; Cornelia Kornblum; Torsten Kraya; Stephan Zierz; Carolyn Sue; Hans Goebel; Asim Azfer; Stuart H Ralston; Peter Hackman; Robert C Bucelli; J Paul Taylor; Conrad C Weihl; Bjarne Udd
Journal:  J Clin Invest       Date:  2018-02-19       Impact factor: 14.808
  9 in total

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